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Aliases for RPS17 Gene

Aliases for RPS17 Gene

  • Ribosomal Protein S17 2 3 5
  • Small Ribosomal Subunit Protein ES17 3 4
  • RPS17L 3 4
  • Ribosomal Protein S17-Like 2
  • 40S Ribosomal Protein S17 3
  • RPS17L1 3
  • RPS17L2 3
  • DBA4 3
  • S17 3

External Ids for RPS17 Gene

Previous HGNC Symbols for RPS17 Gene

  • RPS17L

Previous GeneCards Identifiers for RPS17 Gene

  • GC15M079008
  • GC15M076138
  • GC15M080395
  • GC15M080536
  • GC15M080608
  • GC15M082821
  • GC15M059476

Summaries for RPS17 Gene

Entrez Gene Summary for RPS17 Gene

  • Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

GeneCards Summary for RPS17 Gene

RPS17 (Ribosomal Protein S17) is a Protein Coding gene. Diseases associated with RPS17 include Diamond-Blackfan Anemia 4 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for RPS17 Gene

Additional gene information for RPS17 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS17 Gene

Genomics for RPS17 Gene

GeneHancer (GH) Regulatory Elements for RPS17 Gene

Promoters and enhancers for RPS17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I082539 Promoter 1.7 EPDnew Ensembl 550.8 +0.3 263 2.2 ARID4B SIN3A ZBTB7B E2F8 ELK1 ZNF143 ATF7 KLF13 SP3 SP5 RPS17 PIR43638 ENSG00000278013 C15orf40 FAM103A1 WHAMM AP3B2 ENSG00000260836
GH15I081752 Enhancer 1 Ensembl ENCODE 27.7 +787.7 787669 0.9 PKNOX1 NFIB MZF1 SIN3A ZNF195 FEZF1 RFX5 ZNF350 RCOR1 ZNF214 GC15P081751 GC15P081752 RPS17 UBE2Q2P2 GOLGA6L9 SNHG21 GC15M081763 ENSG00000259692 ENSG00000259543
GH15I082146 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.1 +393.5 393516 2.1 PKNOX1 ARNT SIN3A TCF12 ATF7 FOS NCOA1 ZNF592 ATF4 MAFF RPS17 GC15P082150 GC15P082104 EFL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS17 gene promoter:

Genomic Locations for RPS17 Gene

Genomic Locations for RPS17 Gene
chr15:82,536,750-82,540,564
(GRCh38/hg38)
Size:
3,815 bases
Orientation:
Minus strand
chr15:82,821,158-82,824,972
(GRCh37/hg19)

Genomic View for RPS17 Gene

Genes around RPS17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS17 Gene

Proteins for RPS17 Gene

  • Protein details for RPS17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08708-RS17_HUMAN
    Recommended name:
    40S ribosomal protein S17
    Protein Accession:
    P08708
    Secondary Accessions:
    • B2R4U4
    • P0CW22

    Protein attributes for RPS17 Gene

    Size:
    135 amino acids
    Molecular mass:
    15550 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPS17 Gene

neXtProt entry for RPS17 Gene

Post-translational modifications for RPS17 Gene

No Post-translational modifications

Other Protein References for RPS17 Gene

No data available for DME Specific Peptides for RPS17 Gene

Domains & Families for RPS17 Gene

Gene Families for RPS17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS17 Gene

Suggested Antigen Peptide Sequences for RPS17 Gene

Graphical View of Domain Structure for InterPro Entry

P08708

UniProtKB/Swiss-Prot:

RS17_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS17 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS17 family.
genes like me logo Genes that share domains with RPS17: view

Function for RPS17 Gene

Molecular function for RPS17 Gene

GENATLAS Biochemistry:
40S ribosomal protein S17,15kDa

Gene Ontology (GO) - Molecular Function for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003735 structural constituent of ribosome NAS,IEA 17647292
genes like me logo Genes that share ontologies with RPS17: view
genes like me logo Genes that share phenotypes with RPS17: view

Human Phenotype Ontology for RPS17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS17 Gene

Localization for RPS17 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS17 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005840 ribosome NAS,IEA 3240863
GO:0005925 focal adhesion IDA,HDA 21423176
genes like me logo Genes that share ontologies with RPS17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS17 Gene

Pathways & Interactions for RPS17 Gene

SuperPathways for RPS17 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.55
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS17: view

Gene Ontology (GO) - Biological Process for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IEA,IC 8706699
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS17: view

No data available for SIGNOR curated interactions for RPS17 Gene

Drugs & Compounds for RPS17 Gene

No Compound Related Data Available

Transcripts for RPS17 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS17 Gene

No ASD Table

Relevant External Links for RPS17 Gene

GeneLoc Exon Structure for
RPS17
ECgene alternative splicing isoforms for
RPS17

Expression for RPS17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPS17 Gene

This gene is overexpressed in Pancreas (21.3), Lung (14.3), and Nasal epithelium (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS17 Gene



Protein tissue co-expression partners for RPS17 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPS17 Gene:

RPS17

Evidence on tissue expression from TISSUES for RPS17 Gene

  • Lung(4.9)
  • Pancreas(4.9)
  • Kidney(4.8)
  • Liver(4.8)
  • Skin(4.8)
  • Nervous system(4.7)
  • Eye(4.6)
  • Muscle(4.4)
  • Blood(3.9)
  • Intestine(3.8)
  • Heart(3.3)
  • Bone(3.2)
  • Spleen(3.1)
  • Bone marrow(2.8)
  • Lymph node(2.6)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Thyroid gland(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPS17: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS17 Gene

Orthologs for RPS17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
OneToMany
RPS17 33
  • 96.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
OneToMany
RPS17 33
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia RPS17 33 34
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Rps17 33 16 34
  • 89.14 (n)
chicken
(Gallus gallus)
Aves RPS17 34
  • 98 (a)
OneToMany
RPS17L 33
  • 83.95 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 99 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rps17 33
  • 83.21 (n)
Str.6800 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8337 33
zebrafish
(Danio rerio)
Actinopterygii RPS17L 34
  • 98 (a)
OneToMany
zgc:114188 33
  • 82.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpS17 35 34
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea rps-17 35 33 34
  • 69.49 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01474g 33
  • 66.06 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER319W 33
  • 65.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS17A 33 34
  • 63.61 (n)
RPS17B 34 36
  • 57 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05220 33
  • 58.2 (n)
rice
(Oryza sativa)
Liliopsida Os03g0109500 33
  • 61.16 (n)
Os.46371 33
wheat
(Triticum aestivum)
Liliopsida Ta.22649 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07014 33
  • 69.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps1701 33
  • 62.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14632 33
Species where no ortholog for RPS17 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RPS17 Gene

ENSEMBL:
Gene Tree for RPS17 (if available)
TreeFam:
Gene Tree for RPS17 (if available)

Paralogs for RPS17 Gene

No data available for Paralogs for RPS17 Gene

Variants for RPS17 Gene

Sequence variations from dbSNP and Humsavar for RPS17 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs116840811 pathogenic, Diamond-Blackfan anemia 4 82,540,427(-) A/C initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs116840812 pathogenic, Diamond-Blackfan anemia 4 82,538,939(-) CTCT/CT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs6991 pathogenic, uncertain-significance, Diamond-Blackfan anemia 4, not specified 82,538,982(-) A/C/G coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs1000298418 -- 82,537,392(-) T/C intron_variant
rs1000328941 -- 82,537,177(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RPS17 Gene

Variant ID Type Subtype PubMed ID
esv21531 CNV gain+loss 19812545
esv22027 CNV gain+loss 19812545
nsv1035899 CNV gain 25217958
nsv1069878 CNV deletion 25765185
nsv1120052 OTHER inversion 24896259
nsv1126402 CNV deletion 24896259
nsv1131093 CNV deletion 24896259
nsv469699 CNV loss 16826518
nsv471686 CNV gain+loss 15918152
nsv483125 CNV loss 15286789
nsv833071 CNV gain 17160897
nsv952012 CNV deletion 24416366
nsv976958 CNV duplication 23825009

Additional Variant Information for RPS17 Gene

Human Gene Mutation Database (HGMD)
RPS17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RPS17 Gene

Disorders for RPS17 Gene

MalaCards: The human disease database

(21) MalaCards diseases for RPS17 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 4
  • dba4
diamond-blackfan anemia
  • blackfan - diamond syndrome
congenital hypoplastic anemia
  • fanconi anemia
diaphragm disease
  • abnormality of the diaphragm
macrocytic anemia
  • anemia macrocytic
- elite association - COSMIC cancer census association via MalaCards
Search RPS17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS17_HUMAN
  • Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269 PubMed:17647292, ECO:0000269 PubMed:19061985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RPS17: view

No data available for Genatlas for RPS17 Gene

Publications for RPS17 Gene

  1. [Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells]. (PMID: 7661859) Filipenko ML … Mertvetsov NP (Bioorganicheskaia khimiia 1995) 2 3 22 58
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 3 4 58
  3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 3 4 58
  4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PMID: 20068231) Olsen JV … Mann M (Science signaling 2010) 3 4 58
  5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PMID: 20378560) Konno Y … Ito E (Haematologica 2010) 3 44 58

Products for RPS17 Gene

Sources for RPS17 Gene

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